What surveillance and management strategies are recommended for individuals with Turner syndrome?

From the Guidelines

Comprehensive surveillance and management for individuals with Turner syndrome should include regular monitoring across multiple body systems throughout life, with a focus on cardiac evaluations, including echocardiograms and MRI of the aorta to detect aortic dilation, as recommended by the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease 1.

Key Recommendations

• Patients with Turner syndrome should undergo cardiac imaging, including TTE and cardiac MRI, at the time of diagnosis to evaluate for BAV, aortic root and ascending aortic dilation, aortic coarctation, and other congenital heart defects 1.
• The use of the ASI (ratio of aortic diameter [cm] to BSA [m2]) is recommended to define the degree of aortic dilation and assess the risk of aortic dissection in patients with Turner syndrome who are ≥15 years old 1.
• Surveillance imaging with TTE or MRI to evaluate the aorta is recommended every 5 years in children and every 10 years in adults, as well as before planning a pregnancy, in patients with Turner syndrome without risk factors for aortic dissection 1.
• In patients with Turner syndrome and an ASI >2.3 cm/m2, surveillance imaging of the aorta is recommended at least annually 1.
• Surgical intervention to replace the aortic root, ascending aorta, or both may be considered in patients with Turner syndrome who are ≥15 years old and have an ASI of ≥2.5 cm/m2 plus risk factors for aortic dissection 1.

Additional Considerations

• Regular screening for hearing loss, renal abnormalities (ultrasound), celiac disease, and metabolic issues including glucose intolerance is necessary 1.
• Bone density should be monitored, with calcium (1200-1500 mg daily) and vitamin D (800-1000 IU daily) supplementation often recommended.
• Psychological support and educational interventions addressing nonverbal learning disabilities are important components of care.
• Endocrine management typically involves growth hormone therapy and estrogen replacement therapy to induce puberty and maintain secondary sexual characteristics.
• Thyroid function should be assessed annually with TSH and free T4 measurements, as hypothyroidism is common.
• The frequency of imaging should be informed by aortic diameter, aortic growth rate, severity of hypertension, and aortic valve function 1.

From the Research

Surveillance and Management Strategies for Turner Syndrome

The following are recommended surveillance and management strategies for individuals with Turner syndrome:

• Cardiovascular disease surveillance:
  • In-depth cardiovascular examination at diagnosis 2
  • Life-long surveillance of cardiac function, aortic diameter, and blood pressure 3, 4
  • Cardiac imaging, preferably magnetic resonance imaging, should be performed at diagnosis and repeated at 5- to 10-yr intervals to assess for congenital heart abnormalities and the emergence of aortic dilatation 5
• Hypertension management:
  • Aggressive treatment of hypertension 5
  • Monitoring of blood pressure on a lifelong basis 4
• Gonadal failure management:
  • Hormonal replacement therapy should begin at a normal pubertal age and be continued until the age of 50 yr 5
  • Transdermal estradiol provides the most physiological replacement 5
• Growth failure management:
  • Growth hormone therapy should generally begin as soon as growth failure occurs, allowing for rapid normalization of height 5
• Multidisciplinary medical care:
  • Gynecologists should take primary responsibility for the management of adults with Turner syndrome, in cooperation with specialists from other fields 6
  • A multidisciplinary team approach, including a pediatric endocrinologist, gynaecologist, cardiologist, vascular radiologist, and hypertension specialist, can provide optimal support to patients with Turner syndrome 2
• Screening for other complications:
  • Screening for glucose intolerance, liver dysfunction, hyperlipidemia, and hypertension 6
  • Bone mineral density measurements, anti-thyroid antibody titer measurements, hearing tests, and cardiovascular MRI should be performed as needed 6